FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3201466907> ?p ?o ?g. }

• W3201466907 abstract "We report on a case of a little girl patient diagnosed with Gaucher disease (GD) type 1 in her early childhood and our first experience with enzyme replacement therapy (ERT). She was first diagnosed accidentally with enlarged spleen during a pediatric examination when she was three years old, but the family ignored investigations; she was hospitalized for diagnosis at six years old. The GD was confirmed based on: clinical manifestations of left abdominal flank pain, multiple bruising, general weakness, bone pain, low appetite, failure to thrive <5th percentile, minor hepato- and severe splenomegaly, enlarged submaxillary lymph nodes, associated by anemia with normal platelets; low activity of beta-Glucosidase, two found mutations in GBA gene, Gaucher cells in bone marrow. The ERT was initiated with Imiglucerase (54 UI/kg/2 wks) two years later after diagnosis, avoiding the splenectomy. Subsequently, the platelets showed the first a promising result, gradually increasing their number every 2 weeks and maintaining it in good parameters till the reported moment (2.5 yrs from the start). The hemoglobin level was appreciated within normal ranges 3 months after ERT start and stabilized completely after 6 months. On the other hand, the red blood count normalized within 20 months of applied therapy. The Lyso-GL-1 decreased by 30% after three months of therapy, no antibodies to Imiglucerase were found. The initial spleen volume (1178.19 cm3) decreased by almost 60% in 6 months of ERT, reaching absolutely normal dimensions after 9 months. The ERT with Imiglucerase was tolerated very well by the patient, showing a clear improvement of clinical symptoms after 4-6 months of therapy, hematological picture and splenomegaly solving. Even if the little patient had to come every 2 weeks for infusion, her quality of life improved a lot, being a totally happy child, going to school and having friends. The ERT should be initiated immediately after diagnosis to prevent the multisystem complications." @default.
• W3201466907 created "2021-09-27" @default.
• W3201466907 creator A5026536990 @default.
• W3201466907 creator A5027898095 @default.
• W3201466907 creator A5033871057 @default.
• W3201466907 creator A5036760111 @default.
• W3201466907 creator A5048443649 @default.
• W3201466907 creator A5050004541 @default.
• W3201466907 creator A5052913854 @default.
• W3201466907 creator A5055260541 @default.
• W3201466907 creator A5056702153 @default.
• W3201466907 creator A5066093096 @default.
• W3201466907 creator A5090554602 @default.
• W3201466907 creator A5075667573 @default.
• W3201466907 date "2021-08-01" @default.
• W3201466907 modified "2023-10-17" @default.
• W3201466907 title "Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report." @default.
• W3201466907 cites W1985723103 @default.
• W3201466907 cites W1989812344 @default.
• W3201466907 cites W1997205147 @default.
• W3201466907 cites W2007348345 @default.
• W3201466907 cites W2097080902 @default.
• W3201466907 cites W2111640917 @default.
• W3201466907 cites W2158028339 @default.
• W3201466907 cites W2407717434 @default.
• W3201466907 cites W2588291989 @default.
• W3201466907 cites W81287710 @default.
• W3201466907 cites W2115864709 @default.
• W3201466907 doi "https://doi.org/10.15386/mpr-2232" @default.
• W3201466907 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8411813" @default.
• W3201466907 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34527913" @default.
• W3201466907 hasPublicationYear "2021" @default.
• W3201466907 type Work @default.
• W3201466907 sameAs 3201466907 @default.
• W3201466907 citedByCount "1" @default.
• W3201466907 countsByYear W32014669072022 @default.
• W3201466907 crossrefType "journal-article" @default.
• W3201466907 hasAuthorship W3201466907A5026536990 @default.
• W3201466907 hasAuthorship W3201466907A5027898095 @default.
• W3201466907 hasAuthorship W3201466907A5033871057 @default.
• W3201466907 hasAuthorship W3201466907A5036760111 @default.
• W3201466907 hasAuthorship W3201466907A5048443649 @default.
• W3201466907 hasAuthorship W3201466907A5050004541 @default.
• W3201466907 hasAuthorship W3201466907A5052913854 @default.
• W3201466907 hasAuthorship W3201466907A5055260541 @default.
• W3201466907 hasAuthorship W3201466907A5056702153 @default.
• W3201466907 hasAuthorship W3201466907A5066093096 @default.
• W3201466907 hasAuthorship W3201466907A5075667573 @default.
• W3201466907 hasAuthorship W3201466907A5090554602 @default.
• W3201466907 hasConcept C126322002 @default.
• W3201466907 hasConcept C141071460 @default.
• W3201466907 hasConcept C187212893 @default.
• W3201466907 hasConcept C2776139714 @default.
• W3201466907 hasConcept C2776309230 @default.
• W3201466907 hasConcept C2778248108 @default.
• W3201466907 hasConcept C2779134260 @default.
• W3201466907 hasConcept C2779969927 @default.
• W3201466907 hasConcept C2780007613 @default.
• W3201466907 hasConcept C2780247198 @default.
• W3201466907 hasConcept C2780931953 @default.
• W3201466907 hasConcept C2780955771 @default.
• W3201466907 hasConcept C71924100 @default.
• W3201466907 hasConceptScore W3201466907C126322002 @default.
• W3201466907 hasConceptScore W3201466907C141071460 @default.
• W3201466907 hasConceptScore W3201466907C187212893 @default.
• W3201466907 hasConceptScore W3201466907C2776139714 @default.
• W3201466907 hasConceptScore W3201466907C2776309230 @default.
• W3201466907 hasConceptScore W3201466907C2778248108 @default.
• W3201466907 hasConceptScore W3201466907C2779134260 @default.
• W3201466907 hasConceptScore W3201466907C2779969927 @default.
• W3201466907 hasConceptScore W3201466907C2780007613 @default.
• W3201466907 hasConceptScore W3201466907C2780247198 @default.
• W3201466907 hasConceptScore W3201466907C2780931953 @default.
• W3201466907 hasConceptScore W3201466907C2780955771 @default.
• W3201466907 hasConceptScore W3201466907C71924100 @default.
• W3201466907 hasLocation W32014669071 @default.
• W3201466907 hasOpenAccess W3201466907 @default.
• W3201466907 hasPrimaryLocation W32014669071 @default.
• W3201466907 hasRelatedWork W1992770282 @default.
• W3201466907 hasRelatedWork W2039576143 @default.
• W3201466907 hasRelatedWork W2045100587 @default.
• W3201466907 hasRelatedWork W2051715247 @default.
• W3201466907 hasRelatedWork W2057103989 @default.
• W3201466907 hasRelatedWork W2074656924 @default.
• W3201466907 hasRelatedWork W2181441760 @default.
• W3201466907 hasRelatedWork W2334501346 @default.
• W3201466907 hasRelatedWork W2394860381 @default.
• W3201466907 hasRelatedWork W2397204703 @default.
• W3201466907 hasRelatedWork W2408763525 @default.
• W3201466907 hasRelatedWork W2416501802 @default.
• W3201466907 hasRelatedWork W2416811646 @default.
• W3201466907 hasRelatedWork W2430279204 @default.
• W3201466907 hasRelatedWork W2601712666 @default.
• W3201466907 hasRelatedWork W2955422446 @default.
• W3201466907 hasRelatedWork W3082423463 @default.
• W3201466907 hasRelatedWork W3083529384 @default.
• W3201466907 hasRelatedWork W3119678259 @default.
• W3201466907 hasRelatedWork W3202545422 @default.
• W3201466907 hasVolume "94" @default.
• W3201466907 isParatext "false" @default.

• next